Conditions / Syndrome
primary ciliary dyskinesia 46
info · Syndrome
A primary ciliary dyskinesia characterized by recurrent sinus and respiratory infections, with reduced pulmonary function and uncoordinated beating of respiratory cilia that has_material_basis_in homozygous mutation in the STK36 gene on chromosome 2q35. Situs
A primary ciliary dyskinesia characterized by recurrent sinus and respiratory infections, with reduced pulmonary function and uncoordinated beating of respiratory cilia that has_material_basis_in homozygous mutation in the STK36 gene on chromosome 2q35. Situs abnormalities have not been reported.
Signs and symptoms
- Ciliary dyskinesia
- Hearing impairment
- Bronchiectasis
- Reduced forced vital capacity
- Reduced forced expiratory volume in one second
- Recurrent otitis media
- Reduced sperm motility
- Recurrent pneumonia
- Recurrent sinusitis
Also known as: CILD46